Parental chromosomal aberrations associated with multiple abortions and an abnormal infant

Chromosomal aberrations were found in an infant with midline fusion defects and in both phenotypically normal parents. Both mother and infant had a pericentric inversion of a number 2 chromosome and increased frequencies of chromatid and chromosome breaks. The infant also had a Bring in some cells and partial deletion of the long arm of a Bchromosome in other cells. The father was mosaic for trisomy D. The obstetric history of this couple —ie, three spontaneous first-trimester abortions and one stillbirth, indicates that parental chromosomal aberrations may result in fetal wastage; The probable mechanisms of formation and transmission of the chromosomal aberrations are discussed.